Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Global developmental delay +4 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Wide anterior fontanel +16 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease, type I +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene